Anandi Lobo, Sourav K Mishra, Andres M Acosta, Seema Kaushal, Mahmut Akgul, Sean R Williamson, Ankur R Sangoi, Manju Aron, Shivani R Kandukuri, Sayali Shinde, Shivani Sharma, Ekta Jain, Jasreman Dhillon, Akansha Deshwal, Kamal Peddinti, Sunil Jaiswal, Sthiti Das, Rahul Kapoor, Ghanashyam Biswas, Manas R Pradhan, Adeboye O Osunkoya, Dinesh Pradhan, Indranil Chakrabarti, Shilpy Jha, Anil V Parwani, Rajal B Shah, Mahul B Amin, Liang Cheng, Sambit K Mohanty
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Herein, we describe the clinicopathologic features and molecular profile of paratesticular SS in the largest case series to date and to the best of our knowledge, and the only series to use novel SS18-SSX antibody for immunohistochemistry. Clinicopathologic, immunohistochemical (IHC), molecular, treatment, and follow-up data of the patients were analyzed. There were 14 patients, ranging from 15 to 47 years (mean: 30 y). The tumor size ranged from 4 to 15 cm. The tumors were unilateral, solid, and homogeneous tan-white with monomorphic spindle cell histology. All 14 tumors expressed SS18-SSX and TLE1 IHC and harbored SS18 rearrangement. In addition, the tumor with multifocal SS18-SSX expression had lower break-apart signals in the FISH assay (38% of the tumor cells; range: 29% to 85%). Radical orchiectomy was performed in all 14 patients and adjuvant chemotherapy was administered in 9 patients. Follow-up was available in 9 patients. The follow-up duration ranged from 5 to 24 months (median=10 mo). Four patients died of metastatic disease (range: 5 to 16 mo) and 2 patients who are alive had metastatic disease at the last follow-up. Based on our experience with the largest series to date and aggregate of the published data, paratesticular SS has a poor prognosis despite aggressive therapy. Owing to its rarity, the differential diagnosis is wide and requires a systematic approach for ruling out key morphologic mimics aided with SS18-SSX IHC and molecular confirmation because this distinction carries important therapeutic and prognostic implications. Due to the excellent concordance of SS18-SSX IHC results with FISH results as observed in our study, we would like to suggest inclusion of SS18-SSX in the diagnostic immunohistochemistry panel of all spindle cell sarcomas where synovial sarcoma is considered as a morphologic differential. SS18-SSX-positive staining may be used as a surrogate for FISH assay in a resource-limited setting where molecular assay is not available. 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引用次数: 0
摘要
滑膜肉瘤(SS)是一种罕见的泌尿生殖系统恶性肿瘤,大多数情况下具有特异性 SS18::SSX 1/2基因融合。这种肿瘤的睾丸旁位置极为罕见,文献中仅报道了4例。在本文中,我们描述了睾丸旁 SS 的临床病理特征和分子特征,这是迄今为止我们所知的最大的病例系列,也是唯一使用新型 SS18-SSX 抗体进行免疫组化的病例系列。我们对患者的临床病理、免疫组化(IHC)、分子、治疗和随访数据进行了分析。14名患者的年龄从15岁到47岁不等(平均30岁)。肿瘤大小从 4 厘米到 15 厘米不等。肿瘤为单侧、实性、均质棕白色,组织学为单形纺锤形细胞。所有14个肿瘤均表达SS18-SSX和TLE1 IHC,并存在SS18重排。此外,多灶性 SS18-SSX 表达的肿瘤在 FISH 检测中的断裂信号较低(占肿瘤细胞的 38%;范围:29% 至 85%)。所有14名患者均接受了根治性睾丸切除术,9名患者接受了辅助化疗。9 名患者接受了随访。随访时间从5个月到24个月不等(中位数=10个月)。4 名患者死于转移性疾病(5 到 16 个月),2 名存活的患者在最后一次随访时患有转移性疾病。根据我们迄今为止最大系列的经验和已发表数据的汇总,尽管进行了积极治疗,睾丸旁 SS 的预后仍较差。由于其罕见性,鉴别诊断的范围很广,需要采用系统的方法,在 SS18-SSX IHC 和分子确认的帮助下排除关键的形态学拟态,因为这种鉴别对治疗和预后有重要影响。在我们的研究中观察到,SS18-SSX IHC 结果与 FISH 结果的一致性非常好,因此我们建议将 SS18-SSX 纳入所有纺锤形细胞肉瘤的免疫组化诊断中,因为滑膜肉瘤被认为是一种形态学鉴别。在资源有限、无法进行分子检测的情况下,SS18-SSX 染色阳性可作为 FISH 检测的替代方法。此外,IHC 的周期较短、不太复杂且成本较低。
SS18-SSX Expression and Clinicopathologic Profiles in a Contemporary Cohort of Primary Paratesticular Synovial Sarcoma: A Series of Fourteen Patients.
Synovial sarcoma (SS) is a rare genitourinary malignancy with a specific SS18::SSX 1/2 gene fusion in majority of the instances. The paratesticular location of this neoplasm is extremely rare and only 4 cases are reported in the literature. Herein, we describe the clinicopathologic features and molecular profile of paratesticular SS in the largest case series to date and to the best of our knowledge, and the only series to use novel SS18-SSX antibody for immunohistochemistry. Clinicopathologic, immunohistochemical (IHC), molecular, treatment, and follow-up data of the patients were analyzed. There were 14 patients, ranging from 15 to 47 years (mean: 30 y). The tumor size ranged from 4 to 15 cm. The tumors were unilateral, solid, and homogeneous tan-white with monomorphic spindle cell histology. All 14 tumors expressed SS18-SSX and TLE1 IHC and harbored SS18 rearrangement. In addition, the tumor with multifocal SS18-SSX expression had lower break-apart signals in the FISH assay (38% of the tumor cells; range: 29% to 85%). Radical orchiectomy was performed in all 14 patients and adjuvant chemotherapy was administered in 9 patients. Follow-up was available in 9 patients. The follow-up duration ranged from 5 to 24 months (median=10 mo). Four patients died of metastatic disease (range: 5 to 16 mo) and 2 patients who are alive had metastatic disease at the last follow-up. Based on our experience with the largest series to date and aggregate of the published data, paratesticular SS has a poor prognosis despite aggressive therapy. Owing to its rarity, the differential diagnosis is wide and requires a systematic approach for ruling out key morphologic mimics aided with SS18-SSX IHC and molecular confirmation because this distinction carries important therapeutic and prognostic implications. Due to the excellent concordance of SS18-SSX IHC results with FISH results as observed in our study, we would like to suggest inclusion of SS18-SSX in the diagnostic immunohistochemistry panel of all spindle cell sarcomas where synovial sarcoma is considered as a morphologic differential. SS18-SSX-positive staining may be used as a surrogate for FISH assay in a resource-limited setting where molecular assay is not available. Furthermore, IHC has a fairly shorter turn-around-time, is less complex, and of low cost.
期刊介绍:
The American Journal of Surgical Pathology has achieved worldwide recognition for its outstanding coverage of the state of the art in human surgical pathology. In each monthly issue, experts present original articles, review articles, detailed case reports, and special features, enhanced by superb illustrations. Coverage encompasses technical methods, diagnostic aids, and frozen-section diagnosis, in addition to detailed pathologic studies of a wide range of disease entities.
Official Journal of The Arthur Purdy Stout Society of Surgical Pathologists and The Gastrointestinal Pathology Society.